TYK2, tyrosine kinase 2, 7297

N. diseases: 172; N. variants: 22
Disease: Primary immune deficiency disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.020 GeneticVariation group BEFREE These studies reveal a new clinical entity of a primary immunodeficiency with T-cell lymphopenia that is associated with compound heterozygous TYK2 mutations in the patients. 29725107 2018
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		0.020 Biomarker group BEFREE Human tyk2 kinase deficiency: another primary immunodeficiency syndrome. 17098200 2006